Identification of c.483C>T polymorphism in the caprine Tyrosinase-related protein 1(TYRP1) gene

Bouabid Badaoui, Arianna Manunza, Mariasilvia D'Andrea, Fabio Pilla, Juan Capote, Jordi Jordana, Ainhoa Ferrando, Amparo Martínez, Juan V. Delgado, Vincenzo Landi, Mariano Gómez, Agueda L. Pons Barro, Mabrouk El-Ouni, Oriol Vidal, Marcel Amills

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2 Citations (Scopus)


Tyrosinase-related protein 1 (TYRP1) has been shown to play a fundamental role in pigmentation both in human and mouse. In this work, we aimed to characterize the variability of the caprine TYRP1 gene and investigate its segregation in a wide array of goat breeds. By partially sequencing the coding region of the TYRP1 gene in 18 individuals from eight different breeds, we were able to identify a synonymous nucleotide substitution at exon 3 (c.483C>T). An extensive survey of Iberian and Balearic (N=175), Italian (N=99), Swiss (N=54), Asian (N=14), Canarian (N=92) and North African (N=117) goats with different coat colours was carried out. We found that the C-allele has a different distribution in European vs African breeds, being almost fixed in the latter. Moreover, the C-allele showed an increased frequency in white coated breeds (Girgentana, Grigia Molisana, Blanca de Rasquera and Saanen) when compared with those displaying a dark pigmentation (Cilentana Nera, Azpi Gorri and Murciano-Granadina). This could be due to genetic drift, migration and other factors associated with the demographic history of breeds under analysis or to a genetic hitchhiking event (c.483C>T frequencies would be shaped by a neighbouring causal mutation differentially selected in white and black goats). More refined studies will be needed to distinguish between these two alternative explanations. © B. Badaoui et al., 2012.
Original languageEnglish
Pages (from-to)63-67
JournalItalian Journal of Animal Science
Publication statusPublished - 16 Jul 2012


  • Coat colour
  • Goat
  • Tyrosinase-related protein 1


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